研究小鼠疾病模型中 MCT8 缺失脑部的磁共振成像技术

Q4 Biochemistry, Genetics and Molecular Biology

Methods in molecular biology Pub Date : 2025-01-01 DOI:10.1007/978-1-0716-4252-8_12

Marina Guillén-Yunta, Ana Guadaño-Ferraz, Víctor Valcárcel-Hernández

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引用次数: 0

摘要

磁共振成像（MRI）技术已成为揭示罕见病病理生理学的强大工具，这主要是因为它们在早期诊断、疾病特征描述和无创治疗监测方面发挥着关键作用。在本章中，我们将回顾用于研究和评估 Allan-Herndon-Dudley 综合征或 MCT8 缺乏症病理生理学的两种基本磁共振成像工具，MCT8 缺乏症是一种罕见病，由编码甲状腺激素特异性跨膜转运体 MCT8 的 SLC16A2 基因的失活突变引起。这两种磁共振成像技术是飞行时间磁共振血管成像（TOF-MRA）和弥散张量成像（DTI）。

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Magnetic Resonance Imaging Techniques for Investigating the MCT8-Deficient Brain in Murine Disease Models.

Magnetic resonance imaging (MRI) techniques have emerged as powerful tools for unraveling the pathophysiology of rare diseases, mainly due to their pivotal role in early diagnosis, disease characterization, and treatment monitoring in a non-invasive manner. In this chapter, we will review two essential MRI tools used for studying and evaluating the pathophysiology of Allan-Herndon-Dudley Syndrome or MCT8 deficiency, a rare disease caused by inactivating mutations in the SLC16A2 gene, encoding for the thyroid hormone-specific transmembrane transporter MCT8. These two MRI techniques are time-of-flight magnetic resonance angiography (TOF-MRA) and diffusion tensor imaging (DTI).

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来源期刊

Methods in molecular biology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.00

自引率

0.00%

发文量

3536

期刊介绍： For over 20 years, biological scientists have come to rely on the research protocols and methodologies in the critically acclaimed Methods in Molecular Biology series. The series was the first to introduce the step-by-step protocols approach that has become the standard in all biomedical protocol publishing. Each protocol is provided in readily-reproducible step-by-step fashion, opening with an introductory overview, a list of the materials and reagents needed to complete the experiment, and followed by a detailed procedure that is supported with a helpful notes section offering tips and tricks of the trade as well as troubleshooting advice.